1. Rubinstein-Taybi Syndrome: Child Characteristics and Parental Perception Noorwijkerhout 06-05-2011 Ina van Berckelaer-Onnes & Josette Wulffaert

2. Content Introduction of the research Introduction of the research Results of the RTS study Results of the RTS study Clinical and scientific recommendations Clinical and scientific recommendations

3. Objective of the study: to generate syndrome specific knowledge valuable for clinical practice Acquiring knowledge about child and family characteristics associated with specific genetic syndromes in order to formulate recommendations for clinical practice

4. It all started in 2004 based on a clinical question Raoul Hennekam (University of Amsterdam) referred a child with Cornelia de Lange to Ina van Berckelaer-Onnes (University of Leiden) with the question: Raoul Hennekam (University of Amsterdam) referred a child with Cornelia de Lange to Ina van Berckelaer-Onnes (University of Leiden) with the question: has this child an autism spectrum disorder? The answer was YES, The answer was YES, but then another question was raised: what can we do with this information ? A research question was born: A research question was born: from a clinical question to a scientific study

5. Genetic Syndromes in Families child characteristics and parenting stress in: Cornelia de Lange CHARGE Angelman Prader-Willi Rett syndrome Wolf- Hirschhorn Rubinstein Taybi

6. Participants (1) Cornelia de Lange syndrome (1:10,000 -1:62,000) N=37 Cornelia de Lange syndrome (1:10,000 -1:62,000) N=37 Rett syndrome (1:10,000 - 2:10,000) N=52 Rett syndrome (1:10,000 - 2:10,000) N=52 Prader-Willi syndrome (1:8,000 – 1:52,000) N=23 Prader-Willi syndrome (1:8,000 – 1:52,000) N=23 Angelman syndrome ( 1:10,000 -1: 40,000) N=24 Angelman syndrome ( 1:10,000 -1: 40,000) N=24

7. Participants (2) CHARGE ( Coloboma of the eyes, Heart defects,Atresea of the choanae, Retardation of growth and/or development and/or nervous system anomalies, Genital hypoplasia, Ear anomalies and/or deafness CHARGE ( Coloboma of the eyes, Heart defects,Atresea of the choanae, Retardation of growth and/or development and/or nervous system anomalies, Genital hypoplasia, Ear anomalies and/or deafness ( 1:8,500 – 1:12,500) N=22 ( 1:8,500 – 1:12,500) N=22 Wolf-Hirschhorn syndrome (1:20,000 -1:50,000) N=14 Wolf-Hirschhorn syndrome (1:20,000 -1:50,000) N=14 Rubinstein-Taybi syndrome (± 1: 125,000) N=32 Rubinstein-Taybi syndrome (± 1: 125,000) N=32

8. Our research is not focusing on the syndromes themselves but on the children with these syndromes and the parents of these children Our research is not focusing on the syndromes themselves but on the children with these syndromes and the parents of these children

9. Research items Behaviour: specific behaviour (related to the syndrome) challenging behaviour adaptive behaviour (socialization and communication) Additional disorders : autism intellectual disability Parents: stress child-rearing perception

10. Research protocol Involvement of parents (questionnaires and interview) Involvement of parents (questionnaires and interview) Involvement of caregivers and teachers (quetionnaires) Involvement of caregivers and teachers (quetionnaires)

11. Parent questionnaires (1) VOG-O (Dutch version of the Developmental Behavior Checklist-Primary Carer : DBC-P Einfeld & Tonge,1996) VOG-O (Dutch version of the Developmental Behavior Checklist-Primary Carer : DBC-P Einfeld & Tonge,1996) SCQ (Dutch version of the Social Communication Questionnaire, Rutter et al 2002) SCQ (Dutch version of the Social Communication Questionnaire, Rutter et al 2002) VISK (Dutch Questionnaire for making an inventory of social behaviour of children,, Luteijn,Minderaa & Jackson, 2002) VISK (Dutch Questionnaire for making an inventory of social behaviour of children,, Luteijn,Minderaa & Jackson, 2002)

12. Parent Questionnaires (2) NOSIK (Nijmeegse Parenting Stress Index – Kort; De Brock, Vermulst, Gerris & Abidin, 1992) NOSIK (Nijmeegse Parenting Stress Index – Kort; De Brock, Vermulst, Gerris & Abidin, 1992) Questionnaire about the parental perception of child-rearing and the care systems (Groffen & Van Berckelaer-Onnes) Questionnaire about the parental perception of child-rearing and the care systems (Groffen & Van Berckelaer-Onnes) Medical questionnaire (Hennekam) Medical questionnaire (Hennekam)

13. Parents Questionnaire (3) and interview Vineland Screener 0-12 (Van Duin, et al 2009) Diagnostic Interview for Social and Communication Disorders (Wing 2003)* *Parents are interviewed in the home situation

14. Caregivers and teachers Questionnaires: VOG-L (Dutch version of the Developmental Behavior Checklist-Primary Carer for teachers/caregivers; Einfeld & Tonge,1996) VOG-L (Dutch version of the Developmental Behavior Checklist-Primary Carer for teachers/caregivers; Einfeld & Tonge,1996) AVZ-R (Dutch Scale for Autism and related disorders- Revised; Kraijer, 1994) AVZ-R (Dutch Scale for Autism and related disorders- Revised; Kraijer, 1994) Vineland Screener 0-12 (Van Duijn et al. 2008) Vineland Screener 0-12 (Van Duijn et al. 2008)

15. Participants Rubinstein-Taybi syndroom ▪ 46% parental response ▪ 32 subjects (13 ♂, 19 ♀) ▪ Age 4 - 50 year (mean age 19 year) ▪ Genetic mutation: 41% 25% no information about mutation

16. Participants Living-situation:66% parents home 31% (partly) residential setting 3% independent with supervision Children (n=25): 88% parents home 12% (partly) residential setting Adults (n=17) : 40% parents home 53% (partly) residential setting 7% independent with supervision 53% (partly) residential setting 7% independent with supervision

17. Daily activities Daily activities of the participants Aantal Special education for children with intellectual disability (Cluster 3 education) 9 (28%) Day care centre for adults with intellectual disability 7 (22%) Day care centre for children with a intellectual disability (KDC) 3 (10%) Regular education 2 (6%) Special education for mildly impaired children (SBO) 1 (3%) Otherwise 10 (31%)

18. Adaptive functioning  Communication  Socialization  Self care skills  Motor development  Administrated by parents and caregivers/teachers

19. Level of adaptive functioning (parents)  Communication: between < 1 and 9.9 year (mean 3.8y)  Socialization: between <1 and 8.5 year (mean 4.0 y)  Self care skills: between < 1 and 9.9 year (mean 4.8 y)  Motor development: between < 1 and 8 year (mean 4.1y)

20. Level of adaptive functioning (parents and caregivers /teachers ) 31 parents and 30 professionals Total VABS score: parents: between < 1 and 9.3 y (mean 4.0 year) Total VABS score professionals: between < 1 and 9.3 y (mean 3.5 year) (mean 3.5 year)

21. Level of adaptive functioning (parents and caregivers /teachers) Communication self care skills socialization motor dev. Parents Caregivers/teachers

22. ) Rate of intellectual disability (parents) mild moderate severe profound

23. Challenging behaviour (parents) 32 subjects No difference in ♂/♀, with the exception that females show more anxiety 38% alarming amount of challenging behaviour Higher age more behaviour problems No relation between level of intellectual functioning and behaviour problems

24. Challenging behaviour (parents) Disruptive behavior Self-absorbed behavior. Communication problems anxiety Social relating problems

25. Autism Spectrum Disorder  8 (25%) persons without ASD  11 (34%) persons with a strong presumption of ASD  13 (41%) persons with doubts about the ASD (expanded diagnostics is needed) ) This ASD percentage is higher than we find in the general population of persons with an intellectual disability (26%- 37% ASD)

26. Parenting stress (75% mothers) Very low –below average8 (25%) Average11 (34%) Above average1 (3%) High6 (19%) Very high6 (19%)

27. Parenting stress  There is no relationship between chronological age and level of adaptive functioning  There is a relationship between the severity of behaviour problems and the level of stress

28. Comparison parenting stress

29. Parental perception of the education Easy: 28% Heavy: 59% Very heavy: 10% No response: 3%

30. Perception of the care systems : 45% want to have more information in an early stage about: Medical problems Developmental perspective Behavioural characteristics of children with RTS Child rearing and education

31. Conclusions Conclusions Most of the participants have a moderate - severe intellectual disability Most of the participants have a moderate - severe intellectual disability RTS will not develop into challenging behaviour RTS will not develop into challenging behaviour Some behaviours seem to be characteristic for RTS, in particular for children Some behaviours seem to be characteristic for RTS, in particular for children RTS can occur with Autism; alertness on this co-morbidity is needed RTS can occur with Autism; alertness on this co-morbidity is needed Parenting stress is relatively high, but a great deal of the parents do not perceive the stress as very high Parenting stress is relatively high, but a great deal of the parents do not perceive the stress as very high

32. Practical and clinical recommendations (1) Parents need clear information about the syndrome: what can we expect in different aspects? Can RTS occur with other disorders (intellectual disability, autism)? Parents need clear information about the syndrome: what can we expect in different aspects? Can RTS occur with other disorders (intellectual disability, autism)? Parents need support and advice in the education of their child: how can we stimulate the development, how can we cope with behavioural problems Parents need support and advice in the education of their child: how can we stimulate the development, how can we cope with behavioural problems

33. Practical and clinical recommendations (2) : Parents need more information about care systems, parent associations, day care centers and school systems Parents need more information about care systems, parent associations, day care centers and school systems A good website has to be available for all parents and people involved A good website has to be available for all parents and people involved Parent Associations need to be supported by professionals Parent Associations need to be supported by professionals

34. Research recommendations Cooperation between different research centers is needed to enlarge the research group and share information Cooperation between different research centers is needed to enlarge the research group and share information Results of scientific studies have to be translated into clinical practices Results of scientific studies have to be translated into clinical practices Treatment has to be focused more on the behavioural phenotype Treatment has to be focused more on the behavioural phenotype As regards childrearing, we need more insight in risk and protective factors As regards childrearing, we need more insight in risk and protective factors

35. Many thanks to all the children and adults with RST, involved in our study all the children and adults with RST, involved in our study all the parents all the parents the Dutch RTS parent association the Dutch RTS parent association the researchers involved in this study the researchers involved in this study

36. We all have the same aim: to enhance the quality of life of individuals with RTS and their parents! Thank you for your attention